Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141970897
rs141970897
CRAT
C 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
dbSNP: rs762425351
rs762425351
CRAT
T 0.700 GeneticVariation CLINVAR CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 31448845

2020
dbSNP: rs1057518966
rs1057518966
MUSK
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518970
rs1057518970
RYR1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs201439531
rs201439531
CHAT
G 0.700 CausalMutation CLINVAR

dbSNP: rs63751422
rs63751422
PMS2
A 0.700 CausalMutation CLINVAR

dbSNP: rs751889864
rs751889864
MUSK ; LOC107987115
C 0.700 GeneticVariation CLINVAR

dbSNP: rs769234940
rs769234940
CHAT
T 0.700 CausalMutation CLINVAR

dbSNP: rs774919231
rs774919231
RYR1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80338933
rs80338933
SH3TC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338937
rs80338937
SH3TC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
T 0.700 GeneticVariation CLINVAR

dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
C 0.700 GeneticVariation CLINVAR